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  2. Familial Genetic Generalised Epilepsies
  3. KCNMA1
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Familial Genetic Generalised Epilepsies

Gene: KCNMA1

Red List (low evidence)
KCNMA1 (potassium calcium-activated channel subfamily M alpha 1)
EnsemblGeneIds (GRCh38): ENSG00000156113
EnsemblGeneIds (GRCh37): ENSG00000156113
OMIM: 600150, Gene2Phenotype
KCNMA1 is in 7 panels

1 review

Richard Scott (Genomics England Curator)

Comment on list classification: Insufficient data
Created: 8 May 2016, 7 p.m.
Created: 8 May 2016, 7 p.m.

Panel version: 0.4

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Generalized Epilepsy and Paroxysmal Dyskinesia
OMIM
600150
Clinvar variants
Variants in KCNMA1
Penetrance
Complete
Panels with this gene

History Filter Activity

8 May 2016, Gel status: 1

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

6 May 2015, Gel status: 2

Added New Source

Eik Haraldsdottir (Genomics England)

KCNMA1 was added to Familial generalised epilepsypanel. Sources: Radboud University Medical Center, Nijmegen

6 May 2015, Gel status: 1

Added New Source

Eik Haraldsdottir (Genomics England)

KCNMA1 was added to Familial generalised epilepsypanel. Sources: Illumina TruGenome Clinical Sequencing Services